Evidence map›Paper›PMID 36468211›Full record

ReviewHistopathology2023

Hereditary breast cancer: syndromes, tumour pathology and molecular testing.

A Sokolova, K J Johnstone, A E McCart Reed, P T Simpson, S R Lakhani

Open access · hybridAbstract readReview
In one paragraph

Review in Histopathology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.

0numbers the graph read from it
0cells of the map it votes in
42citing papers in PubMed
10.5field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

42 citing papers in PubMed, 61 citations in OpenAlex.

  1. Review
  2. Review
  3. Article
  4. Article
  5. Inherited cancer syndromes in adult oncology: a referral guide based on malignant tumor and polyp features.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2026
    Review
  6. Review
  7. Article
  8. Article
  9. Article
  10. Article
  11. Genetic landscape of cancer: mechanisms, key genes, and therapeutic implications.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2026
    Review
  12. Review
  13. Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Review
  19. Observational
  20. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors at 1 institution in 1 country.

A SokolovaSullivan and Nicolaides Pathology, Brisbane.ORCID https://orcid.org/0000-0002-0347-6181
K J JohnstoneCentre for Clinical Research, Faculty of Medicine, The University of Queensland, Brisbane.ORCID https://orcid.org/0000-0003-1137-8810
A E McCart ReedCentre for Clinical Research, Faculty of Medicine, The University of Queensland, Brisbane.ORCID https://orcid.org/0000-0001-5387-2791
P T SimpsonCentre for Clinical Research, Faculty of Medicine, The University of Queensland, Brisbane.ORCID https://orcid.org/0000-0002-4816-8289
S R LakhaniCentre for Clinical Research, Faculty of Medicine, The University of Queensland, Brisbane.ORCID https://orcid.org/0000-0003-4067-2760
The University of Queensland · AU

Funding

Breast Cancer Trials Australia and New ZealandNational Health and Medical Research Council
6 · The paper itself

Abstract

Hereditary factors account for a significant proportion of breast cancer risk. Approximately 20% of hereditary breast cancers are attributable to pathogenic variants in the highly penetrant BRCA1 and BRCA2 genes. A proportion of the genetic risk is also explained by pathogenic variants in other breast cancer susceptibility genes, including ATM, CHEK2, PALB2, RAD51C, RAD51D and BARD1, as well as genes associated with breast cancer predisposition syndromes - TP53 (Li-Fraumeni syndrome), PTEN (Cowden syndrome), CDH1 (hereditary diffuse gastric cancer), STK11 (Peutz-Jeghers syndrome) and NF1 (neurofibromatosis type 1). Polygenic risk, the cumulative risk from carrying multiple low-penetrance breast cancer susceptibility alleles, is also a well-recognised contributor to risk. This review provides an overview of the established breast cancer susceptibility genes as well as breast cancer predisposition syndromes, highlights distinct genotype-phenotype correlations associated with germline mutation status and discusses molecular testing and therapeutic implications in the context of hereditary breast cancer.

Indexed as

Molecular Diagnostic TechniquesNeoplasmsHumansSyndromeBRCA1BRCA2cancer syndromesfamilial breast cancergenotype-phenotype correlation

Identifiers

PMID36468211
PMCPMC10953374
OpenAlexW4311580581

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.